PMC Articles for MedGen (Select 108218) - PMC

Klaudia Rakusiewicz, Krystyna Kanigowska, Wojciech Hautz, Dorota Wicher, Marlena Młynek, Marta Wyszyńska, Anna Rogowska, Joanna Jędrzejczak-Młodziejewska, Małgorzata Danowska, Agnieszka Czeszyk

Open Med (Wars) 2021; 16(1): 156–160. Published online 2021 Jan 19. doi: 10.1515/med-2021-0208

PMCID:: PMC7819545

Abstract Article PDF–1.1M

Select item 111274904.

PallorMetrics: Software for Automatically Quantifying Optic Disc Pallor in Fundus Photographs, and Associations With Peripapillary RNFL Thickness

Samuel Gibbon, Graciela Muniz-Terrera, Fabian S. L. Yii, Charlene Hamid, Simon Cox, Ian J. C. Maccormick, Andrew J. Tatham, Craig Ritchie, Emanuele Trucco, Baljean Dhillon, Thomas J. MacGillivray

Transl Vis Sci Technol. 2024 May; 13(5): 20. Published online 2024 May 23. doi: 10.1167/tvst.13.5.20

PMCID:: PMC11127490

Abstract Article PDF–8.0M

Select item 62328565.

Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment

Zubair M Ahmed, Thomas J Jaworek, Gowri N Sarangdhar, Lili Zheng, Khitab Gul, Shaheen N Khan, Thomas B Friedman, Robert A Sisk, James R Bartles, Sheikh Riazuddin, Saima Riazuddin

J Med Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: J Med Genet. 2018 Jul; 55(7): 479–488. Published online 2018 Mar 23. doi: 10.1136/jmedgenet-2017-105221

PMCID:: PMC6232856

Abstract Article PDF–1.1M

Select item 39196676.

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family

Ditta Zobor, Ghassan Balousha, Britta Baumann, Bernd Wissinger

Mol Vis. 2014; 20: 178–182. Published online 2014 Feb 7.

PMCID:: PMC3919667

Abstract Article PDF–1.0M

Select item 84704947.

Ocular Toxoplasmosis Associated with Unilateral Pigmentary Retinopathy That May Mimic Retinitis Pigmentosa: Diagnostic Dilemmas

Izabella Karska-Basta, Bożena Romanowska-Dixon, Dorota Pojda-Wilczek, Natalia Mackiewicz

Medicina (Kaunas) 2021 Sep; 57(9): 892. Published online 2021 Aug 27. doi: 10.3390/medicina57090892

PMCID:: PMC8470494

Abstract Article PDF–7.7M

Select item 79961808.

Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness

Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, Ajoy Vincent

Genes (Basel) 2021 Mar; 12(3): 330. Published online 2021 Feb 25. doi: 10.3390/genes12030330

PMCID:: PMC7996180

Abstract Article PDF–7.6M

Select item 58735179.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

Nashila Hirji, Patrick D. Bradley, Shuning Li, Ajoy Vincent, Mark E. Pennesi, Akshay S. Thomas, Elise Heon, Aparna Bhan, Omar A. Mahroo, Anthony Robson, Chris F. Inglehearn, Anthony T. Moore, Michel Michaelides

Am J Ophthalmol. 2018 Apr; 188: 123–130. doi: 10.1016/j.ajo.2018.01.029

PMCID:: PMC5873517

Abstract Article PDF–2.1M

Select item 795320310.

Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation

Paul Yang, Pei-Wen Chiang, Richard G. Weleber, Mark E. Pennesi

JAMA Ophthalmol. Author manuscript; available in PMC 2021 Mar 12.

Published in final edited form as: JAMA Ophthalmol. 2015 Jun; 133(6): 653–661. doi: 10.1001/jamaophthalmol.2015.0357

PMCID:: PMC7953203

Abstract Article PDF–1.2M

Select item 402154011.

Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes

Daniëlle GM Bosch, F Nienke Boonstra, Michèl AAP Willemsen, Frans PM Cremers, Bert BA de Vries

BMC Ophthalmol. 2014; 14: 59. Published online 2014 May 1. doi: 10.1186/1471-2415-14-59

PMCID:: PMC4021540

Abstract Article PDF–236K

Select item 352650912.

Dominant optic atrophy

Guy Lenaers, Christian Hamel, Cécile Delettre, Patrizia Amati-Bonneau, Vincent Procaccio, Dominique Bonneau, Pascal Reynier, Dan Milea

Orphanet J Rare Dis. 2012; 7: 46. Published online 2012 Jul 9. doi: 10.1186/1750-1172-7-46

PMCID:: PMC3526509

Abstract Article PDF–946K

Select item 1101759313.

Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis

Ahmad Daher, Malak Banjak, Jinane Noureldine, Joseph Nehme, Said El Shamieh

BMC Ophthalmol. 2024; 24: 167. Published online 2024 Apr 15. doi: 10.1186/s12886-024-03419-4

PMCID:: PMC11017593

Abstract Article PDF–3.6M

Select item 1112617814.

Leber's hereditary optic neuropathy – case report and literature review

Hélio Afonso Ghizoni Teive, André Ribeiro Troiano, Salmo Raskin, Lineu César Werneck

Sao Paulo Med J. 2004; 122(6): 276–279. Published online 2004 Nov 4. doi: 10.1590/S1516-31802004000600010

PMCID:: PMC11126178

Abstract Article PDF–164K

Select item 1013736015.

FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population

Shutong Yi, Yuxi Zheng, Zhen Yi, Yingwei Wang, Yi Jiang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

Genes (Basel) 2023 Apr; 14(4): 952. Published online 2023 Apr 21. doi: 10.3390/genes14040952

PMCID:: PMC10137360

Abstract Article PDF–5.4M

Select item 287723816.

Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans

Sun Ho Lee, Hyeong Gon Yu, Jong Mo Seo, Sang Woong Moon, Jun Woong Moon, Sang Jin Kim, Hum Chung

J Korean Med Sci. 2010 Jun; 25(6): 918–923. Published online 2010 May 24. doi: 10.3346/jkms.2010.25.6.918

PMCID:: PMC2877238

Abstract Article PDF–147K

Select item 356256517.

Spinocerebellar Ataxia Type 7: Clinical Course, Phenotype-Genotype Correlations, and Neuropathology

Laura C. Horton, Matthew P. Frosch, Mark G. Vangel, Carol Weigel-DiFranco, Eliot L. Berson, Jeremy D. Schmahmann

Cerebellum. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Cerebellum. 2013 Apr; 12(2): 176–193. doi: 10.1007/s12311-012-0412-4

PMCID:: PMC3562565

Abstract Article PDF–1.9M

Select item 427812018.

A novel mutation in a case of dominant optic atrophy?

Hema L Ramkumar, Peter J Savino

Indian J Ophthalmol. 2014 Oct; 62(10): 1034–1036. doi: 10.4103/0301-4738.146043

PMCID:: PMC4278120

Abstract Article PDF–1.4M

Select item 818016419.

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova

BMC Ophthalmol. 2021; 21: 249. Published online 2021 Jun 5. doi: 10.1186/s12886-021-02013-2

PMCID:: PMC8180164

Abstract Article PDF–920K

Select item 932724520.

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis

Jinfeng Han, Ya Li, Ya You, Ke Fan, Bo Lei

BMC Ophthalmol. 2022; 22: 322. Published online 2022 Jul 26. doi: 10.1186/s12886-022-02546-0

PMCID:: PMC9327245

Abstract Article PDF–1.3M

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